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目的 分析侵入性产前诊断确诊的胎儿异常染色体病例中染色体异常的类型和产前诊断指证, 探讨适合中国国情的产前筛查策略.方法 回顾性分析2014年1月1日至2016年6月30日在上海市集爱生殖遗传中心行侵入性产前诊断并确诊的575例胎儿异常染色体病例中染色体异常类型和不同产前诊断指证的比例.结果 575例诊断为胎儿染色体异常的病例中, 染色体数目异常有385例 (66.96％), 包括21-三体综合征228例 (39.65％), 18-三体综合征72例 (12.52％), 13-三体综合征14例 (2.43％), 三倍体2例 (0.35％), 性染色体异常54例 (9.39％), 15例为其他染色体数目异常 (2.61％) .染色体结构异常有190例 (33.04％), 包括染色体多态性85例 (14.78％) 和染色体微缺失及微重复105例 (18.26％) .575例胎儿染色体核型异常的产前诊断指证, 无创DNA高风险有174例 (30.26％), 母体血清学筛查高风险有144例 (25.04％), 超声检查异常有140例 (24.35％), 高龄有53例 (9.22％), 双亲为染色体结构异常核型携带者的有39例 (6.78％), 其他25例 (4.35％) .结论 无创DNA联合高龄及超声筛查, 可以发现74％的胎儿染色体数目异常, 所以在经济发达地区可以考虑应用无创DNA联合超声检查的产前筛查策略.对于双亲为异常染色体携带者且有不良孕产史者, 本次妊娠除进行严格的超声结构筛查之外, 还建议行侵入性产前诊断及基因检测以排除染色体结构异常.“,”Objective:To analyze the types of chromosome abnormalities and indications of prenatal diagnosis, in order to provide a suitable prenatal screening strategy for China. Methods:A total of 575 cases in singleton pregnancies conducting the invasive prenatal diagnosis and diagnosed with fetal chromosome abnormalities, were retrospectively analyzed from January 1 st, 2014 to July 30 th, 2016 in Shanghai Ji Ai reproductive and genetic center. Results:Of total 575 cases, 385 cases were diagnosed with chromosome numerical changes (66.96％), including 228 cases of trisomy 21 syndrome (39.65％), 72 cases of trisomy 18 syndrome (12.52％), 14 cases of trisomy 13 syndrome (2.43％), 2 cases of triploid (0.35％), 54 cases of sex chromosome abnormalities (9.39％), 15 cases of other types of chromosome numerical changes (2.61％). 190 cases (33.04％) were diagnosed with chromosome structural abnormalities, including chromosome polymorphism in 85 cases (14.78％), chromosome microdeletion and micro duplication in 105 cases (18.26％). Indications of all 575 cases including, 174 cases of high risk in noninvasive DNA test (30.26％), 144 cases of high risk in maternal serum screening (25.04％), 140 cases of ultrasound screening abnormalities (24.35％), 53 cases of advanced maternal age (9.22％), carriers of chromosome abnormal karyotype in 39 cases (6.78％), 25 cases of other indications (4.35％). Conclusion:Noninvasive prenatal screening using cellfree DNA combined with advanced maternal age and ultrasound screening can detect 74％ fetal chromosome abnormalities, so it is suggested that noninvasive DNA test combined with ultrasound screening can be applied in developed areas. For parents, who are chromosome abnormal karyotype carriers and has adverse pregnancy history, in addition to the ultrasound screening, is also strongly recommended for invasive prenatal diagnosis and genetic screening to exclude chromosome structural abnormalities.